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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TM6SF2
transmembrane 6 superfamily member 2
Chromosome 19 · 19p13.11
NCBI Gene: 53345Ensembl: ENSG00000213996.14HGNC: HGNC:11861UniProt: Q9BZW4
105PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-Golgi intermediate compartment membraneidentical protein bindingregulation of lipid metabolic processprotein bindingliver diseaseHypercholesterolemiahyperlipidemiametabolic disease
✦AI Summary

TM6SF2 (transmembrane 6 superfamily member 2) is a key regulator of hepatic lipid metabolism with significant implications for liver disease. The protein functions primarily in liver fat metabolism by influencing triglyceride secretion and hepatic lipid droplet content 1. TM6SF2 operates through multiple mechanisms, including direct interaction with PNPLA3 to facilitate polyunsaturated fatty acid transfer from triglycerides to phosphatidylcholine, which is crucial for maintaining proper lipid composition and membrane fluidity 2. The protein also regulates antitumor immunity by directly binding to IKKβ and inhibiting NF-κB signaling, thereby reducing IL-6 secretion and activating cytotoxic CD8+ T cells 3. Additionally, intestinal TM6SF2 maintains gut barrier function and prevents microbial dysbiosis through interactions with fatty acid-binding protein 5 4. Clinically, TM6SF2 genetic variants, particularly the E167K polymorphism, are strongly associated with non-alcoholic fatty liver disease (NAFLD) susceptibility and progression 56. Individuals carrying risk variants show increased susceptibility to hepatic steatosis, steatohepatitis, and hepatocellular carcinoma 7. The E167K variant specifically impairs PUFA transfer mechanisms, promoting hepatic steatosis and injury, making TM6SF2 a potential therapeutic target for metabolic liver diseases 2.

Sources cited
1
TM6SF2 functions in liver fat metabolism by influencing triglyceride secretion and hepatic lipid droplet content
PMID: 32298765
2
TM6SF2 interacts with PNPLA3 to facilitate polyunsaturated fatty acid transfer from triglycerides to phosphatidylcholine
PMID: 39054606
3
TM6SF2 regulates antitumor immunity by binding IKKβ and inhibiting NF-κB signaling to reduce IL-6 secretion
PMID: 39667906
4
Intestinal TM6SF2 maintains gut barrier function through interactions with fatty acid-binding protein 5
PMID: 39779889
5
TM6SF2 genetic variants are associated with NAFLD susceptibility
PMID: 37709864
6
TM6SF2 variants show genome-wide significance for NAFLD
PMID: 34841290
7
TM6SF2 polymorphisms are associated with increased risk of hepatocellular carcinoma
PMID: 34453963
Disease Associationsⓘ20
liver diseaseOpen Targets
0.44Moderate
HypercholesterolemiaOpen Targets
0.43Moderate
hyperlipidemiaOpen Targets
0.42Moderate
metabolic diseaseOpen Targets
0.41Moderate
cirrhosis of liverOpen Targets
0.40Moderate
familial hyperlipidemiaOpen Targets
0.38Weak
Abnormality of the liverOpen Targets
0.36Weak
non-alcoholic fatty liver diseaseOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.34Weak
familial hypercholesterolemiaOpen Targets
0.29Weak
esophageal varicesOpen Targets
0.29Weak
Disorder of lipid metabolismOpen Targets
0.27Weak
Abnormality of blood and blood-forming tissuesOpen Targets
0.27Weak
physical activityOpen Targets
0.26Weak
elevated lactate dehydrogenaseOpen Targets
0.25Weak
thrombocytopenia 4Open Targets
0.24Weak
hemorrhagic diseaseOpen Targets
0.21Weak
AscitesOpen Targets
0.19Weak
alcoholic liver diseaseOpen Targets
0.17Weak
diabetes mellitusOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAPLN4Protein interaction97%NCANProtein interaction92%TMC4Protein interaction90%LYPLAL1Protein interaction77%GCKRProtein interaction74%PNPLA3Protein interaction71%
Tissue Expression6 tissues
Liver
100%
Heart
2%
Lung
1%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TM6SF2HAPLN4NCANTMC4LYPLAL1GCKRPNPLA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BZW4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.96]
RankingsWhere TM6SF2 stands among ~20K protein-coding genes
  • #4,566of 20,598
    Most Researched105 · top quartile
  • #9,097of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedTM6SF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epidemiology and risk-stratification of NAFLD-associated HCC.
PMID: 34453963
J Hepatol · 2021
1.00
2
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
PMID: 37709864
Nat Genet · 2023
0.90
3
Non-alcoholic fatty liver disease (NAFLD) - pathogenesis, classification, and effect on drug metabolizing enzymes and transporters.
PMID: 28303724
Drug Metab Rev · 2017
0.80
4
Intestinal TM6SF2 protects against metabolic dysfunction-associated steatohepatitis through the gut-liver axis.
PMID: 39779889
Nat Metab · 2025
0.70
5
Hepatic TM6SF2 activates antitumour immunity to suppress metabolic dysfunction-associated steatotic liver disease-related hepatocellular carcinoma and boosts immunotherapy.
PMID: 39667906
Gut · 2025
0.60